Details of Disease

General Information of Disease (ID: DISZ48YF)

• Disease Name: Mitochondrial DNA depletion syndrome 1
• Synonyms: mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related; MTDPS1; polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction; Polip syndrome; myoneurogastrointestinal encephalopathy syndrome; Mngie, tymp-related; mitochondrial DNA depletion syndrome 1 (MNGIE type); mitochondrial DNA depletion syndrome 1; mitochondrial DNA depletion syndrome type 1
• Disease Hierarchy:
  DISIGZSM: Mitochondrial DNA depletion syndrome
  DISZ48YF: Mitochondrial DNA depletion syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0011283
  MESH ID: C536350
  UMLS CUI: C4551995
  OMIM ID: 603041
  MedGen ID: 1631838

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TYMP	OT6BQTMR	Strong	Autosomal recessive	[1]
SCO2	OTJQQDRS	Strong	CausalMutation	[3]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TYMP	TTO0IB8	moderate	Biomarker	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TYMP	DE4HCYL	Strong	Autosomal recessive	[1]

References

• [1] Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. Mol Genet Metab. 2005 Apr;84(4):326-31. doi: 10.1016/j.ymgme.2004.12.004. Epub 2005 Jan 24.
• [2] A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29.
• [3] Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011 Nov;134(Pt 11):3326-32. doi: 10.1093/brain/awr245. Epub 2011 Sep 20.